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Article

[Inherited abnormalities of the epidermis caused by mutation of keratins].

Annales de dermatologie et de venereologie - 1 Jan 1995

Hohl D

Abstract excerpt

The recent identification of keratin mutations as a cause of hereditary disorders of keratinization stresses the importance of an intact cytoskeleton of keratinocytes. Four disorders have reported to be caused by keratin mutations so far: epidermolysis bullosa simplex, bullous congenital ichthyosiform erythroderma, ichthyosis bullosa and epidermolytic palmoplantar hyperkeratosis. Molecular genetic diagnosis of...

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PMID: 8526410

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[Inherited abnormalities of the epidermis caused by mutation of keratins].PMID 8526410Read ↗

[Keratin diseases].Semantic proximity Read ↗

Keratin gene mutations in disorders of human skin and its appendages.Semantic proximity Read ↗

The keratins and their disorders.Semantic proximity Read ↗

[Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects].Semantic proximity Read ↗

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Semantic proximity Read ↗

Inherited defects in keratins.Semantic proximity Read ↗

Human keratin diseases: hereditary fragility of specific epithelial tissues.Semantic proximity Read ↗

The molecular basis of inherited disorders of keratinization.Semantic proximity Read ↗

Keratins and skin disorders.Semantic proximity Read ↗

[Inherited epidermolysis bullosa].Semantic proximity Read ↗

[Epidermolysis bullosa : Diagnosis and therapy].Semantic proximity Read ↗

[From gene to disease; epidermolysis bullosa due to mutations in proteins in or around the hemidesmosome].Semantic proximity Read ↗

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